Variant #0000260432 (NC_000002.11:g.169781304T>G, ABCB11(NM_003742.2):c.3628A>C)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.169781304T>G
DNA change (hg38) g.168924794T>G
Published as ABCB11(NM_003742.2):c.3628A>C (p.T1210P)
ISCN -
DB-ID ABCB11_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license No license selected
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB11 NM_003742.2 +?/. - c.3628A>C r.(?) p.(Thr1210Pro)